ClinVar Miner

Submissions for variant NM_004972.4(JAK2):c.3288T>A (p.Asp1096Glu)

gnomAD frequency: 0.00372  dbSNP: rs62637626
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000880871 SCV001023995 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000121245 SCV002066045 likely benign not specified 2021-10-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000880871 SCV005225325 likely benign not provided criteria provided, single submitter not provided
ITMI RCV000121245 SCV000085416 not provided not specified 2013-09-19 no assertion provided reference population

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